Linked Data
dbSNP Id:
rs1885988
gnomAD v2:
13-28010262-T-C
gnomAD v3:
13-27436125-T-C
gnomAD v4:
13-27436125-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27436125T>C , CM000675.2:g.27436125T>C | GRCh38 |
| NC_000013.10:g.28010262T>C , CM000675.1:g.28010262T>C | GRCh37 |
| NC_000013.9:g.26908262T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381120.8:c.619-232A>G MANE Select | ENSP00000370512.3:n.619-232A>G | |
| ENST00000381116.5:c.619-232A>G | ENSP00000370508.1:n.619-232A>G | |
| ENST00000381120.7:c.619-232A>G | ENSP00000370512.3:n.619-232A>G | |
| ENST00000405591.3:c.619-232A>G | ENSP00000384659.2:n.619-232A>G | |
| ENST00000461838.5:n.738-232A>G | ||
| NM_001166261.1:c.619-232A>G | NP_001159733.1:n.619-232A>G | |
| NM_001166262.1:c.619-232A>G | NP_001159734.1:n.619-232A>G | |
| NM_001166263.1:c.619-232A>G | NP_001159735.1:n.619-232A>G | |
| NM_152912.4:c.619-232A>G | NP_690876.3:n.619-232A>G | |
| XM_005266283.2:c.619-232A>G | XP_005266340.1:n.619-232A>G | |
| XM_006719771.2:c.619-232A>G | XP_006719834.1:n.619-232A>G | |
| XM_006719772.2:c.619-232A>G | XP_006719835.1:n.619-232A>G | |
| XM_011534957.1:c.619-232A>G | XP_011533259.1:n.619-232A>G | |
| XM_011534958.1:c.619-232A>G | XP_011533260.1:n.619-232A>G | |
| XM_011534959.1:c.619-232A>G | XP_011533261.1:n.619-232A>G | |
| XM_011534960.1:c.619-232A>G | XP_011533262.1:n.619-232A>G | |
| XM_011534961.1:c.619-232A>G | XP_011533263.1:n.619-232A>G | |
| XM_011534962.1:c.619-232A>G | XP_011533264.1:n.619-232A>G | |
| XM_011534963.1:c.619-232A>G | XP_011533265.1:n.619-232A>G | |
| XM_006719771.3:c.619-232A>G | XP_006719834.1:n.619-232A>G | |
| XM_006719772.4:c.619-232A>G | XP_006719835.1:n.619-232A>G | |
| XM_011534957.3:c.619-232A>G | XP_011533259.1:n.619-232A>G | |
| XM_011534958.3:c.619-232A>G | XP_011533260.1:n.619-232A>G | |
| XM_011534959.3:c.619-232A>G | XP_011533261.1:n.619-232A>G | |
| XM_011534960.2:c.619-232A>G | XP_011533262.1:n.619-232A>G | |
| XM_011534961.3:c.619-232A>G | XP_011533263.1:n.619-232A>G | |
| XM_011534962.2:c.619-232A>G | XP_011533264.1:n.619-232A>G | |
| XM_011534963.3:c.619-232A>G | XP_011533265.1:n.619-232A>G | |
| XM_017020417.1:c.619-232A>G | XP_016875906.1:n.619-232A>G | |
| XM_024449331.1:c.619-232A>G | XP_024305099.1:n.619-232A>G | |
| NM_001166261.2:c.619-232A>G | NP_001159733.1:n.619-232A>G | |
| NM_001166262.2:c.619-232A>G | NP_001159734.1:n.619-232A>G | |
| NM_001166263.2:c.619-232A>G | NP_001159735.1:n.619-232A>G | |
| NM_152912.5:c.619-232A>G MANE Select | NP_690876.3:n.619-232A>G |